ClinVar Miner

List of variants in gene HUWE1 reported as likely benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 221
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HGVS dbSNP gnomAD frequency
NM_031407.7(HUWE1):c.10593G>A (p.Ser3531=) rs374253424 0.00015
NM_031407.7(HUWE1):c.9010T>C (p.Ser3004Pro) rs782367962 0.00009
NM_031407.7(HUWE1):c.12309C>T (p.His4103=) rs782042293 0.00006
NM_031407.7(HUWE1):c.10929C>T (p.Ala3643=) rs1326564724 0.00005
NM_031407.7(HUWE1):c.2655C>T (p.Leu885=) rs1556995026 0.00005
NM_031407.7(HUWE1):c.5373T>C (p.Tyr1791=) rs782516736 0.00005
NM_031407.7(HUWE1):c.7938A>G (p.Thr2646=) rs1379752152 0.00005
NM_031407.7(HUWE1):c.10950C>T (p.Leu3650=) rs151180939 0.00004
NM_031407.7(HUWE1):c.1416G>A (p.Pro472=) rs145017919 0.00004
NM_031407.7(HUWE1):c.795T>C (p.His265=) rs782644703 0.00004
NM_031407.7(HUWE1):c.11477-4C>T rs782015963 0.00003
NM_031407.7(HUWE1):c.11996+9C>T rs782772316 0.00003
NM_031407.7(HUWE1):c.1869G>C (p.Gln623His) rs149955783 0.00003
NM_031407.7(HUWE1):c.4827C>T (p.Tyr1609=) rs782435043 0.00003
NM_031407.7(HUWE1):c.10614G>A (p.Thr3538=) rs138042974 0.00002
NM_031407.7(HUWE1):c.1188C>T (p.Tyr396=) rs782115290 0.00002
NM_031407.7(HUWE1):c.11985T>C (p.Asp3995=) rs781856800 0.00002
NM_031407.7(HUWE1):c.1243-8C>T rs781931508 0.00002
NM_031407.7(HUWE1):c.1411T>C (p.Cys471Arg) rs782333957 0.00002
NM_031407.7(HUWE1):c.6073G>A (p.Ala2025Thr) rs782688724 0.00002
NM_031407.7(HUWE1):c.6149G>A (p.Arg2050Gln) rs782428636 0.00002
NM_031407.7(HUWE1):c.6852A>G (p.Gln2284=) rs782557931 0.00002
NM_031407.7(HUWE1):c.9981A>G (p.Gln3327=) rs1372957151 0.00002
NM_031407.7(HUWE1):c.10145G>C (p.Ser3382Thr) rs782307186 0.00001
NM_031407.7(HUWE1):c.10470A>G (p.Thr3490=) rs1192210543 0.00001
NM_031407.7(HUWE1):c.10964G>A (p.Arg3655Gln) rs375143574 0.00001
NM_031407.7(HUWE1):c.1142A>C (p.Gln381Pro) rs1012962799 0.00001
NM_031407.7(HUWE1):c.1707A>G (p.Glu569=) rs1557008533 0.00001
NM_031407.7(HUWE1):c.2355A>G (p.Thr785=) rs782555680 0.00001
NM_031407.7(HUWE1):c.2628C>T (p.Cys876=) rs781888845 0.00001
NM_031407.7(HUWE1):c.4095+18C>G rs1481697113 0.00001
NM_031407.7(HUWE1):c.4825-7T>C rs1556972162 0.00001
NM_031407.7(HUWE1):c.4825-9T>C rs1556972169 0.00001
NM_031407.7(HUWE1):c.4890C>T (p.Tyr1630=) rs373770126 0.00001
NM_031407.7(HUWE1):c.568-8A>T rs782788734 0.00001
NM_031407.7(HUWE1):c.6707+6A>G rs782002122 0.00001
NM_031407.7(HUWE1):c.8058G>A (p.Leu2686=) rs1244846258 0.00001
NM_031407.7(HUWE1):c.10026A>G (p.Gln3342=)
NM_031407.7(HUWE1):c.1002T>C (p.Ile334=)
NM_031407.7(HUWE1):c.10036-4G>C
NM_031407.7(HUWE1):c.10044C>G (p.Pro3348=)
NM_031407.7(HUWE1):c.10290A>G (p.Pro3430=)
NM_031407.7(HUWE1):c.10320C>T (p.His3440=)
NM_031407.7(HUWE1):c.10329C>T (p.Ile3443=)
NM_031407.7(HUWE1):c.10605T>A (p.Thr3535=)
NM_031407.7(HUWE1):c.10637-7C>T
NM_031407.7(HUWE1):c.10679G>C (p.Ser3560Thr)
NM_031407.7(HUWE1):c.10759-13T>G
NM_031407.7(HUWE1):c.10794A>G (p.Leu3598=)
NM_031407.7(HUWE1):c.10830G>T (p.Arg3610=)
NM_031407.7(HUWE1):c.10916-14C>T
NM_031407.7(HUWE1):c.10971A>G (p.Gln3657=) rs782455645
NM_031407.7(HUWE1):c.1114+17A>C
NM_031407.7(HUWE1):c.11157C>T (p.Thr3719=)
NM_031407.7(HUWE1):c.1124T>C (p.Met375Thr)
NM_031407.7(HUWE1):c.11252-15T>C
NM_031407.7(HUWE1):c.11252-5C>T
NM_031407.7(HUWE1):c.11260G>A (p.Gly3754Ser)
NM_031407.7(HUWE1):c.1131A>G (p.Pro377=)
NM_031407.7(HUWE1):c.11380-11C>T
NM_031407.7(HUWE1):c.11380-12C>T
NM_031407.7(HUWE1):c.11382G>C (p.Ser3794=)
NM_031407.7(HUWE1):c.11476+8C>T
NM_031407.7(HUWE1):c.11632+15A>G
NM_031407.7(HUWE1):c.11667C>A (p.Val3889=)
NM_031407.7(HUWE1):c.11667C>G (p.Val3889=)
NM_031407.7(HUWE1):c.11796C>T (p.Asp3932=)
NM_031407.7(HUWE1):c.11878+7G>C
NM_031407.7(HUWE1):c.11952C>G (p.Val3984=)
NM_031407.7(HUWE1):c.12342G>C (p.Val4114=)
NM_031407.7(HUWE1):c.1237T>C (p.Leu413=)
NM_031407.7(HUWE1):c.1243-6T>C
NM_031407.7(HUWE1):c.12532-4C>G
NM_031407.7(HUWE1):c.12532-7G>T
NM_031407.7(HUWE1):c.12532-9T>C
NM_031407.7(HUWE1):c.1260C>T (p.Gly420=)
NM_031407.7(HUWE1):c.12650-13G>C
NM_031407.7(HUWE1):c.12650-15T>C
NM_031407.7(HUWE1):c.12774C>T (p.Asp4258=) rs1569392872
NM_031407.7(HUWE1):c.12831+14G>A
NM_031407.7(HUWE1):c.12832-11C>T
NM_031407.7(HUWE1):c.12832-4A>G
NM_031407.7(HUWE1):c.12996A>C (p.Thr4332=) rs1602465094
NM_031407.7(HUWE1):c.13022+12G>A
NM_031407.7(HUWE1):c.13022+17G>A
NM_031407.7(HUWE1):c.13022+17G>C
NM_031407.7(HUWE1):c.13023-10_13023-8del
NM_031407.7(HUWE1):c.13062G>A (p.Glu4354=)
NM_031407.7(HUWE1):c.1383+2TAT[2] rs782154103
NM_031407.7(HUWE1):c.1383+7T>C
NM_031407.7(HUWE1):c.1384-15T>G
NM_031407.7(HUWE1):c.144+18C>T
NM_031407.7(HUWE1):c.1467G>A (p.Glu489=)
NM_031407.7(HUWE1):c.1489+18A>C
NM_031407.7(HUWE1):c.1606C>T (p.Leu536=)
NM_031407.7(HUWE1):c.1656A>G (p.Pro552=)
NM_031407.7(HUWE1):c.1686G>A (p.Val562=)
NM_031407.7(HUWE1):c.171G>T (p.Leu57=) rs982748296
NM_031407.7(HUWE1):c.1722C>T (p.Ser574=)
NM_031407.7(HUWE1):c.1773C>A (p.Ile591=)
NM_031407.7(HUWE1):c.1779+13T>G
NM_031407.7(HUWE1):c.1780-18A>T
NM_031407.7(HUWE1):c.1780-5T>G
NM_031407.7(HUWE1):c.1821A>G (p.Val607=)
NM_031407.7(HUWE1):c.1957+11A>C
NM_031407.7(HUWE1):c.2262-11T>A
NM_031407.7(HUWE1):c.2320-4C>G rs2148705916
NM_031407.7(HUWE1):c.2538T>A (p.Leu846=)
NM_031407.7(HUWE1):c.2616A>G (p.Arg872=)
NM_031407.7(HUWE1):c.2742+14T>C
NM_031407.7(HUWE1):c.2742+17G>C
NM_031407.7(HUWE1):c.2742+18G>T
NM_031407.7(HUWE1):c.2743-10A>G
NM_031407.7(HUWE1):c.2772G>A (p.Gln924=)
NM_031407.7(HUWE1):c.2820A>G (p.Leu940=)
NM_031407.7(HUWE1):c.2830C>T (p.Leu944=)
NM_031407.7(HUWE1):c.2971+20A>C
NM_031407.7(HUWE1):c.2972-12A>G
NM_031407.7(HUWE1):c.2972-20C>T
NM_031407.7(HUWE1):c.303C>G (p.Ala101=)
NM_031407.7(HUWE1):c.3192T>G (p.Ala1064=) rs1602968408
NM_031407.7(HUWE1):c.3295C>A (p.Arg1099=)
NM_031407.7(HUWE1):c.3429T>C (p.Phe1143=)
NM_031407.7(HUWE1):c.3503+19C>T
NM_031407.7(HUWE1):c.3526A>G (p.Met1176Val)
NM_031407.7(HUWE1):c.3973-5_3973-2del rs782250049
NM_031407.7(HUWE1):c.4096-6C>T
NM_031407.7(HUWE1):c.4134A>G (p.Ala1378=) rs1602928904
NM_031407.7(HUWE1):c.4251A>G (p.Glu1417=)
NM_031407.7(HUWE1):c.4359G>A (p.Glu1453=) rs1602922671
NM_031407.7(HUWE1):c.4462-10G>T rs1556975560
NM_031407.7(HUWE1):c.4518C>T (p.Asp1506=)
NM_031407.7(HUWE1):c.4572C>G (p.Ser1524=)
NM_031407.7(HUWE1):c.4602G>A (p.Thr1534=)
NM_031407.7(HUWE1):c.4614+11G>A
NM_031407.7(HUWE1):c.4615-7C>G
NM_031407.7(HUWE1):c.4800A>C (p.Ser1600=)
NM_031407.7(HUWE1):c.4821T>C (p.Thr1607=)
NM_031407.7(HUWE1):c.4824+8dup
NM_031407.7(HUWE1):c.492A>G (p.Gln164=)
NM_031407.7(HUWE1):c.5001+14C>T
NM_031407.7(HUWE1):c.5002-17T>A
NM_031407.7(HUWE1):c.5016A>G (p.Thr1672=)
NM_031407.7(HUWE1):c.5028C>T (p.Arg1676=)
NM_031407.7(HUWE1):c.504+12del
NM_031407.7(HUWE1):c.505-19_505-18del
NM_031407.7(HUWE1):c.5161+15T>C
NM_031407.7(HUWE1):c.5162-18T>A
NM_031407.7(HUWE1):c.5165C>A (p.Thr1722Asn)
NM_031407.7(HUWE1):c.5166C>T (p.Thr1722=)
NM_031407.7(HUWE1):c.5169T>C (p.Pro1723=)
NM_031407.7(HUWE1):c.5226C>G (p.Ile1742Met)
NM_031407.7(HUWE1):c.5313C>T (p.Asp1771=)
NM_031407.7(HUWE1):c.5661A>G (p.Glu1887=)
NM_031407.7(HUWE1):c.568-18G>C
NM_031407.7(HUWE1):c.568-18_568-9del
NM_031407.7(HUWE1):c.568-19T>C
NM_031407.7(HUWE1):c.5885-10G>A
NM_031407.7(HUWE1):c.5885-12del
NM_031407.7(HUWE1):c.6030+18G>A
NM_031407.7(HUWE1):c.6054T>C (p.Gly2018=)
NM_031407.7(HUWE1):c.6312+18T>C
NM_031407.7(HUWE1):c.6313-19G>A
NM_031407.7(HUWE1):c.6330T>G (p.Ala2110=)
NM_031407.7(HUWE1):c.6434G>C (p.Gly2145Ala)
NM_031407.7(HUWE1):c.645+9G>A
NM_031407.7(HUWE1):c.646-19T>A
NM_031407.7(HUWE1):c.646-19T>C
NM_031407.7(HUWE1):c.6493G>T (p.Ala2165Ser)
NM_031407.7(HUWE1):c.6585C>T (p.Ser2195=)
NM_031407.7(HUWE1):c.6708-17_6708-16insAAA
NM_031407.7(HUWE1):c.6708-5C>T
NM_031407.7(HUWE1):c.675C>T (p.His225=)
NM_031407.7(HUWE1):c.6777G>A (p.Gln2259=) rs1602678789
NM_031407.7(HUWE1):c.6810T>C (p.Ser2270=) rs1602678611
NM_031407.7(HUWE1):c.6881-20T>G
NM_031407.7(HUWE1):c.693+17A>T
NM_031407.7(HUWE1):c.7508-4G>T
NM_031407.7(HUWE1):c.7508-7C>A
NM_031407.7(HUWE1):c.7512C>T (p.Asp2504=)
NM_031407.7(HUWE1):c.753G>A (p.Lys251=) rs1603209463
NM_031407.7(HUWE1):c.7605A>C (p.Ser2535=) rs2062225730
NM_031407.7(HUWE1):c.763-18T>C
NM_031407.7(HUWE1):c.7737-7C>T
NM_031407.7(HUWE1):c.7819C>T (p.Leu2607=)
NM_031407.7(HUWE1):c.7866G>A (p.Glu2622=)
NM_031407.7(HUWE1):c.7923G>A (p.Leu2641=)
NM_031407.7(HUWE1):c.8085A>G (p.Lys2695=)
NM_031407.7(HUWE1):c.8161-17A>G
NM_031407.7(HUWE1):c.8207-7G>A rs1602611673
NM_031407.7(HUWE1):c.8258C>G (p.Ala2753Gly)
NM_031407.7(HUWE1):c.8303C>T (p.Ser2768Leu)
NM_031407.7(HUWE1):c.8392A>C (p.Thr2798Pro) rs781986018
NM_031407.7(HUWE1):c.8429G>T (p.Gly2810Val)
NM_031407.7(HUWE1):c.843G>A (p.Leu281=)
NM_031407.7(HUWE1):c.8495-16T>C
NM_031407.7(HUWE1):c.8496C>G (p.Thr2832=)
NM_031407.7(HUWE1):c.8693C>T (p.Ala2898Val)
NM_031407.7(HUWE1):c.8766C>T (p.Ser2922=)
NM_031407.7(HUWE1):c.8781C>T (p.Ser2927=)
NM_031407.7(HUWE1):c.8841G>A (p.Pro2947=)
NM_031407.7(HUWE1):c.8881+10G>A
NM_031407.7(HUWE1):c.8926C>T (p.Leu2976=) rs1602589671
NM_031407.7(HUWE1):c.8952T>C (p.Val2984=)
NM_031407.7(HUWE1):c.8953C>T (p.Leu2985=)
NM_031407.7(HUWE1):c.8993C>G (p.Ala2998Gly)
NM_031407.7(HUWE1):c.9073C>T (p.Leu3025=)
NM_031407.7(HUWE1):c.9096+17G>T
NM_031407.7(HUWE1):c.9097-13T>G
NM_031407.7(HUWE1):c.9099A>G (p.Val3033=)
NM_031407.7(HUWE1):c.9165T>C (p.Pro3055=) rs1602587774
NM_031407.7(HUWE1):c.9279T>C (p.Ala3093=)
NM_031407.7(HUWE1):c.936C>T (p.Val312=)
NM_031407.7(HUWE1):c.9489-15A>G
NM_031407.7(HUWE1):c.963+15G>T
NM_031407.7(HUWE1):c.9743G>T (p.Ser3248Ile)
NM_031407.7(HUWE1):c.9800G>A (p.Arg3267His)
NM_031407.7(HUWE1):c.9810C>A (p.Asp3270Glu)
NM_031407.7(HUWE1):c.9920G>T (p.Gly3307Val)
NM_031407.7(HUWE1):c.9947C>G (p.Ala3316Gly)
NM_031407.7(HUWE1):c.9990T>C (p.Pro3330=)

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